Submissions for variant NM_001378969.1(KCND3):c.1323C>T (p.Tyr441=)

gnomAD frequency: 0.01243  dbSNP: rs17215458

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000436391	SCV000528012	benign	not specified	2016-12-12	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000469000	SCV000559632	benign	Spinocerebellar ataxia type 19/22	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617945	SCV000735652	benign	Cardiovascular phenotype	2016-06-07	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Athena Diagnostics	RCV000436391	SCV001476502	benign	not specified	2020-01-17	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000436391	SCV001925724	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000436391	SCV001965600	benign	not specified		no assertion criteria provided	clinical testing